Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Source :

• Human Mutation [ 1059-7794 ] ; 2008-11.

Descripteurs français

• Wicri :
  • topic : Cancer, Base de données, Génétique, Recherche médicale.

English descriptors

• KwdEn :
  • American college, Assay, Association study, Baylor cancer genetics clinic, Baylor college, Birads classification, Birads system, Brca1, Brca2, Brca2 gene, Brca2 testing, Breast cancer, Breast cancer information core, Canadian breast cancer research alliance, Cancer, Cancer association, Cancer facts, Cancer genetics, Cancer research, Cancer risk, Cancer risk assessment, Cancer susceptibility, Cancer susceptibility genes, Cancer syndromes, Carcinogenicity, Classification category, Classification system, Clinical advice, Clinical classification, Clinical geneticists, Clinical interpretation, Clinical management, Clinical practice, Clinical recommendations, Clinical significance, Clinical testing, Clinical utilization, Clinician, Colon cancer, Colorectal, Colorectal cancer, Common polymorphisms, Computational methods, Cumulative lifetime, Cumulative lifetime breast cancer risk, Cumulative risk, Data system, Database, Easton, Ente cassa, Expert panels, Family history, Family member, Family members, Further data, Gene, Gene function, Gene variants, General population, Genet, Genetic, Genetic testing, Genetic tests, Genetic variants, Genetics, Genetics service, Goldgar, Greenblatt, Guideline, High probability, High risk, Hnpcc, Human genetics, Human mutation, Iarc, Inactivating mutations, Lake champlain cancer research organization, Lifetime risk, Likelihood ratio, Likely explanation, Lower limit, Mcgill university, Medical research, Missense substitutions, Mlh1, Multiple lines, Mutat, Mutation, Mutation carrier, Netherlands cancer institute, Odds ratios, Other genes, Other risk factors, Other types, Ovarian, Ovarian cancer, Pathogenic, Pathogenic mutation, Pathogenicity, Polygenic factors, Population risk, Posterior odds, Posterior probability, Predictive testing, Predictive values, Proband, Queensland institute, Research council, Residual, Residual risk, Risparmio firenze, Routine screening, Second family member, Segregation analysis, Sequence changes, Sequence conservation, Sequence variant, Sequence variants, Sequence variations, Steering committee, Such variants, Surveillance guidelines, Susceptibility, Syndrome, Systematic review, Tavtigian, Test result, Triple assessment, Tumor pathology, Uncertain variants, Variant, Variant result, Variant segregates.
• Teeft :
  • American college, Assay, Association study, Baylor cancer genetics clinic, Baylor college, Birads classification, Birads system, Brca1, Brca2, Brca2 gene, Brca2 testing, Breast cancer, Breast cancer information core, Canadian breast cancer research alliance, Cancer, Cancer association, Cancer facts, Cancer genetics, Cancer research, Cancer risk, Cancer risk assessment, Cancer susceptibility, Cancer susceptibility genes, Cancer syndromes, Carcinogenicity, Classification category, Classification system, Clinical advice, Clinical classification, Clinical geneticists, Clinical interpretation, Clinical management, Clinical practice, Clinical recommendations, Clinical significance, Clinical testing, Clinical utilization, Clinician, Colon cancer, Colorectal, Colorectal cancer, Common polymorphisms, Computational methods, Cumulative lifetime, Cumulative lifetime breast cancer risk, Cumulative risk, Data system, Database, Easton, Ente cassa, Expert panels, Family history, Family member, Family members, Further data, Gene, Gene function, Gene variants, General population, Genet, Genetic, Genetic testing, Genetic tests, Genetic variants, Genetics, Genetics service, Goldgar, Greenblatt, Guideline, High probability, High risk, Hnpcc, Human genetics, Human mutation, Iarc, Inactivating mutations, Lake champlain cancer research organization, Lifetime risk, Likelihood ratio, Likely explanation, Lower limit, Mcgill university, Medical research, Missense substitutions, Mlh1, Multiple lines, Mutat, Mutation, Mutation carrier, Netherlands cancer institute, Odds ratios, Other genes, Other risk factors, Other types, Ovarian, Ovarian cancer, Pathogenic, Pathogenic mutation, Pathogenicity, Polygenic factors, Population risk, Posterior odds, Posterior probability, Predictive testing, Predictive values, Proband, Queensland institute, Research council, Residual, Residual risk, Risparmio firenze, Routine screening, Second family member, Segregation analysis, Sequence changes, Sequence conservation, Sequence variant, Sequence variants, Sequence variations, Steering committee, Such variants, Surveillance guidelines, Susceptibility, Syndrome, Systematic review, Tavtigian, Test result, Triple assessment, Tumor pathology, Uncertain variants, Variant, Variant result, Variant segregates.

Abstract

• https://api.istex.fr/document/30C3DB41661CBDFE24A2E9FA25E30AC26F93A1B7/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075918

Affiliations:

• Australie, Canada, France, Italie, Pays-Bas, Royaume-Uni, États-Unis
• Angleterre, Angleterre de l'Est, Gueldre, Hollande-Septentrionale, Québec, Texas, Vermont
• Amsterdam, Cambridge, Montréal, Nimègue
• Université McGill, Université de Cambridge

Links toward previous steps (curation, corpus...)

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